Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant. (Q45752526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24472419%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant (English)

1 reference

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6 March 2020

main subject

differential diagnosis

1 reference

2

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6 March 2020

Jane Gibson

1

1 reference

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6 March 2020

author name string

David J Bunyan

3

1 reference

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6 March 2020

Elizabeth M Angus

4

1 reference

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6 March 2020

Darren J Fowler

5

1 reference

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6 March 2020

Sarah Ennis

6

1 reference

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6 March 2020

publication date

1 December 2013

1 reference

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6 March 2020

language of work or name

0 references

1 reference

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6 March 2020

volume

95

1 reference

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6 March 2020

issue

6

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6 March 2020

page(s)

165-173

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

6 March 2020

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Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

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TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

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Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis

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N-linked glycosylation is critical for the plasma membrane localization of nephrin

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Benign familial hematuria due to mutation of the type IV collagen alpha4 gene

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

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CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

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How benign is hematuria? Using genetics to predict prognosis

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Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury.

21 January 2018

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Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

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Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

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Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

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A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

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A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan

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inferred from DOI database lookup

7 January 2021

based on heuristic

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

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